Study of Cortisol Metabolism in Familial Partial Lipodystrophy Type 2
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 25
- 试验地点
- 1
- 主要终点
- THE/(THF+αTHF) ratio measured in the 24h urine collections in patients
研究概览
简要总结
Familial partial lipodystrophic syndromes are characterized by an increase in visceral adipose tissue and an atrophy of subcutaneous adipose tissue. They are associated with a severe metabolic syndrome especially when linked to the mutation of the R482 codon of the LMNA gene (Familial partial lipodystrophy type 2, FPL2). Data in lipodystrophy induced by antiretroviral therapy of HIV suggests an increase in the activity of 11β-hydroxysteroid dehydrogenase type 1 (11bHSD1). This enzyme reactivates cortisone in cortisol in adipose tissues and liver and has associated to obesity and type 2 diabetes mellitus. Hence, the hypothesis is that in patients suffering from FPL2 with the R482 codon mutation of the LMNA gene, there is an increase in the activity of HSD11B1 which could participate to the metabolic phenotype of the disease.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 15 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Familia partial lipodystrophy type 2 (FPL2) with the R482 codon mutation of the LMNA gene
- •Social insured
- •Ability to give consent
排除标准
- •urinary incontinence or inability to collect urine for 24 hours
- •moderate and severe kidney insufficiency
- •hepatic insufficiency
- •history of hypercortisolism or adrenal insufficiency
- •treatment interfering with the cortisol metabolism: taking oral or inhaled glucocorticoids within the last 6 months
- •pregnant and lactating woman.
结局指标
主要结局
THE/(THF+αTHF) ratio measured in the 24h urine collections in patients
时间窗: Baseline
次要结局
- Correlation of 11BHSD1 activity and metabolic parameters in patients(Baseline)
- 11BHSD1 expression in subcutaneous adipose tissue in patients(Baseline)
- Cortisol metabolites excretion in patients(Baseline)